Article
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.
Scientific reports - 16 Feb 2017
Zieba Jennifer, Zhang Wenjuan, Chong Jessica X, Forlenza Kimberly N, Martin Jorge H, Heard Kelly, Grange Dorothy K, Butler Merlin G, Kleefstra Tjitske, Lachman Ralph S, Nickerson Deborah, Regnier Michael, Cohn Daniel H, Bamshad Michael, Krakow Deborah
Abstract excerpt
Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by progressive vertebral, carpal and tarsal fusions, and mild short stature. The majority of affected individuals have an autosomal recessive form of SCT and are homozygous or compound heterozygous for nonsense mutations in the gene that encodes the cytoskeletal protein filamin B (FLNB), but a subset do not have FLNB mutations. Exome...
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